title: Detection of MYCN DNA in the cerebrospinal fluid for diagnosing isolated central nervous system relapse in neuroblastoma.
abstract: We present the case of a 1-year-old female with stage-4 neuroblastoma with MYCN amplification; she was treated with five chemotherapy courses, resulting in normalization of elevated serum levels of tumor markers. Complete remission was achieved after allogeneic hematopoietic stem-cell transplantation with reduced-intensity conditioning. Nine months later, however, the tumor relapsed in the central nervous system (CNS). The serum and cerebrospinal fluid (CSF) levels of the tumor markers were normal, but the MYCN copy number was high only in the CSF DNA, suggesting an isolated CNS recurrence. The MYCN copy number in the CSF DNA was reflective of response to treatment.
authors.affiliation: Department of Hematology/Oncology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. tomiko@ifrec.osaka-u.ac.jp
authors.forename: Tomiko
authors.initials: T
authors.lastname: Kimoto
authors.forename: Masami
authors.initials: M
authors.lastname: Inoue
authors.forename: Sadao
authors.initials: S
authors.lastname: Tokimasa
authors.forename: Shigeki
authors.initials: S
authors.lastname: Yagyu
authors.forename: Tomoko
authors.initials: T
authors.lastname: Iehara
authors.forename: Hajime
authors.initials: H
authors.lastname: Hosoi
authors.forename: Keisei
authors.initials: K
authors.lastname: Kawa
mesh_terms: D016543:Central Nervous System Neoplasms / Q000134:cerebrospinal fluid* / Q000175:diagnosis* / Q000209:etiology; D004273:DNA, Neoplasm / Q000097:blood / Q000134:cerebrospinal fluid*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D000071447:N-Myc Proto-Oncogene Protein; D009447:Neuroblastoma / Q000150:complications* / Q000473:pathology; D009687:Nuclear Proteins / Q000097:blood / Q000134:cerebrospinal fluid* / Q000235:genetics*; D015513:Oncogene Proteins / Q000097:blood / Q000134:cerebrospinal fluid* / Q000235:genetics*; D011379:Prognosis
chemical_list: D004273:DNA, Neoplasm; C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins